Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two families with hereditary renal amyloidosis were found to have a novel mutation in the fibrinogen A alpha chain gene. This form of amyloidosis is an autosomal dominant condition characterized by proteinuria, hypertension, and subsequent azotemia. DNAs of patients with amyloidosis were screened for a polymorphism in fibrinogen A alpha chain gene by single-strand conformation polymorphism analysis, and affected individuals from two kindreds were found to have a mutation. Both of these kindreds are American of Irish descent presenting with non-neuropathic, nephropathic amyloidosis in the fifth to the seventh decade of life. DNA sequencing showed a point mutation in the fibrinogen A alpha chain gene that is responsible for substitution of valine for glutamic acid at position 526. By restriction fragment length polymorphism analysis, 7 affected individuals and 14 asymptomatic individuals in these two kindreds were positive for the fibrinogen A alpha chain Val 526 gene. Fibrinogen was isolated from plasma of a heterozygous gene carrier and shown to contain approximately 50% variant fibrinogen. Discovery of this new mutation confirms the association between fibrinogen A alpha chain variant and hereditary renal amyloidosis and establishes a new biochemical subtype of amyloidosis.
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PMID:Hereditary renal amyloidosis with a novel variant fibrinogen. 811 8

Myocardial diseases consist of cardiomyopathy of unknown origin and specific myocardial diseases of known origin. The former consists mainly of dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). In the latter, cardiac amyloidosis may be most frequently seen in the elderly. One hundred and twenty patients with cardiomyopathy were studied concerning their clinical courses. They were divided into 2 groups; i) young-middle-aged (Y) and ii) elderly (0). Group 1 was divided into 2 subgroups: 1a) followed up to an age less than 60 years old, and 1b) followed up to beyond age 60. In DCM, left ventricular posterior wall thickness and left atrial diameter increased significantly in the elderly. In HCM, young patients had obstructive type disease more frequently than the elderly. A history of mild hypertension was found more frequently in the middle-aged or elderly than in the young. Left ventricular end-diastolic diameter increased and left ventricular wall thickness decreased significantly in the elderly. Many patients with DCM usually die of congestive heart failure with ventricular arrhythmia, and those with HCM, both young or middle-aged, often die suddenly during sports activity. If there is an adaptive system, such as increased wall thickness in DCM or decreased wall thickness and increased diameter in HCM, which may contribute to the normalization of left ventricular wall stress, the patients might be able to survive to old age.
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PMID:[Characteristics of myocardial diseases in the elderly]. 820 70

A point mutation in the apolipoprotein AI (apoAI) gene causing autosomal dominant non-neuropathic systemic amyloidosis is described in a previously unreported Canadian family of British origin with five affected individuals in three generations. Amyloid deposits in the renal biopsy from the proband, a 31-year-old female presenting with hypertension and renal failure, stained immunospecifically with antiserum to apoAI. The plasma of all family members with amyloidosis contained both wild-type apoAI and a variant bearing one additional positive charge. Sequencing of the apoAI gene demonstrated that the proband was a heterozygote for a single base substitution in exon 3, changing codon 26 from GGC(Gly) to CGC(Arg). Concordance of the mutant allele with the presence of variant plasma apoAI and clinical features of amyloidosis was demonstrated. This is the third family in which this amyloidotic mutation has been described, but the distribution of amyloid deposits and their clinical effects are clearly determined by other genetic and/or environmental factors.
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PMID:Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. 820 2

Immunotactoid glomerulopathy is characterized by the ultrastructural finding of fibrillary or microtubular deposits in patients without systemic diseases such as SLE, diabetes, paraproteinemias, cryoglobulinemia, or amyloidosis. These deposits correspond in most (but not all) cases to immunoglobulin and complement deposits as shown by immunohistochemical techniques. Different light microscopic patterns (mesangioproliferative, membranous, membranoproliferative, and crescentic) have been reported. Clinical presenting feature is characterized by proteinuria (often of nephrotic range), hematuria, and hypertension in most cases. Chronic renal failure requiring hemodialysis or transplantation is described in more than half the patients. Pathogenesis has not yet been elucidated and only some speculative hypotheses have so far been suggested. At present there is no clear evidence that we are dealing with a new pathologic entity, but larger series must be collected and studied in order to find a correct taxonomic collocation of this glomerulopathy.
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PMID:Immunotactoid glomerulopathy (ITGP): a not fully defined clinicopathologic entity. 851 98

Clinical data and renal biopsy study of 186 adult patients found to have nephropathy and seen at the Security Forces Hospital, Riyadh, over a 5-year period (1989 to 1994) were reviewed. Primary glomerular disease accounted for more than three fourths of all patients (79%), and the most common histological lesion was focal segmental glomerulosclerosis (40.8%) associated with a high incidence of hypertension (86.7%), nephrotic syndrome (61.7%), hematuria (48.8%), and renal impairment (33.3%). Mesangioproliferative glomerulonephritis was the second most common lesion (21.1%), followed by membreous glomerulonephritis (13.6%), immunoglobulin A nephropathy (IgAN) (13.6%), membranoproliferative glomerulonephritis (9.5%), and minimal change disease (1.4%). Although not as common as in most other developed countries, IgAN is being increasingly recognized in Saudis. Lupus nephritis remained the commonest cause of secondary glomerulonephritis (48.5%), whereas amyloidosis was conspicuously absent. There is no evidence, at least in this series, that chronic infection such as hepatitis B virus infection has a major role in the development of glomerulonephritis.
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PMID:Pattern of glomerular disease in Saudi Arabia. 865 Dec 43

The complications of drug abuse encompass a spectrum of glomerular, interstitial, and vascular diseases. They comprise the heroin-associated nephropathy seen in African-American intravenous drug addicts, which, however, has given way in the 1990s to HIV-associated nephropathy. Infections with methicillin-resistant Staphylococcus aureus may cause acute glomerulonephritis by releasing bacterial superantigens. Hepatitis C has supplanted hepatitis B and may give rise to membranoproliferative glomerulonephritis and cryoglobulinemia. Addicts who inject drugs subcutaneously ('skin popping') may develop amyloidosis. Cocaine causes rhabdomyolysis, severe hypertension, occasionally renal failure in the absence of rhabdomyolysis, and may hasten progression to uremia in patients with underlying renal insufficiency. 'Ecstasy', an amphetamine-like recreational drug, has caused acute renal failure, electrolyte disturbances, and malignant hypertension. In Belgium and some other European countries, women taking Chinese herbs in a slimming regimen have developed a severe and irreversible interstitial fibrosis that is assuming epidemic proportions.
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PMID:Drugs of abuse and renal disease. 874 32

We examined the relationship between free fatty acid metabolism using 123I beta-methyl-iodophenyl-pentadecanoic acid (BMIPP) and cardiac function in patients with chronic heart failure (CHF). Cardiac free fatty acid metabolism was evaluated by the heart to mediastinum ratio (H/M), the heart to lung ratio (H/Lu), the heart to liver ratio (H/Li) and the myocardial uptake ratio (MUR) obtained from the planar imaging. Cardiac function was evaluated by the percent of fractional shortening (%FS) and the amount of left ventricular mass (LV mass) calculated with echocardiography. The study included 34 male and 14 female subjects of CHF with mean age of 61 +/- 9 years; dilated cardiomyopathy (DCM): n = 17, ischemic heart disease (IHD): n = 16, valvular disease: n = 5, hypertrophic cardiomyopathy: n = 4, hypertension: n = 4, amyloidosis: n = 2. The correlations between indices of BMIPP uptake and those of echocardiography were as follows: H/M vs. %FS (r = 0.67, p < 0.01), H/Lu vs. %FS (r = 0.49, p < 0.01), H/Li vs. %FS (r = 0.12, p = 0.42), MUR vs. %FS (r = 0.03, p = 0.86) and MUR/LV mass vs. %FS (r = 0.59, p < 0.01). The correlation coefficient between H/M and MUR/LV mass in patients with IHD was higher than that in patients with DCM. In conclusion, BMIPP, in particular, is a useful tool for evaluating cardiac function in patients with CHF.
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PMID:[Usefulness of 123I-BMIPP myocardial scintigraphy for evaluation of the left ventricular function in patients with chronic heart failure]. 880 43

Rapid deterioration of renal function in amyloidotic children may be due to progression of amyloidosis or exacerbation of chronic renal failure (CRF). Continuous ambulatory peritoneal dialysis (CAPD) is superior to hemodialysis (HD) both in end-stage renal disease and in exacerbations of CRF in amyloidosis. A better supply of protein and easier control of hypertension are possible on CAPD, while HD is associated with the risk of hypovolemia episodes, cardiovascular disturbances and bleeding connected with heparinization.
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PMID:Dialysis treatment in children with amyloidosis due to juvenile rheumatoid arthritis. 881 22

We report the case of a 90-year-old lady who presented with full-blown nephrotic syndrome. Percutaneous renal biopsy allowed us to confirm the diagnosis of minimal change glomerulopathy; she entered a 2-year period of remission after a 6-month course of prednisone (starting dose 1.5 mg/kg). The patient sustained minor effects of both renal biopsy and corticotherapy. Percutaneous renal biopsy is justified in the very elderly because the risk of mortality and morbidity related to corticotherapy outweigh the risk related to percutaneous renal biopsy, providing high-risk patients are excluded, such as amyloidosis or abnormal coagulation or uncontrolled arterial hypertension.
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PMID:Minimal change glomerulonephritis in a 90-year-old patient: what is the ideal approach? 885 67

Hereditary amyloidosis of an unusual form has been reported in two separate kindreds; one was Polish-Canadian and the other was Irish-American (Am J Med 1975; 59:121 and Trans Assoc Am Physicians 1981; 94:211). In both kindreds, affected members developed hypertension and nephrotic syndrome due to amyloidosis in their forties or fifties, but the genetic background responsible for the condition has been left undetermined. To identify the genetic defect in these kindreds, a portion of exon 5 of the fibrinogen alpha-chain gene in members of these kindreds was examined for a mutation by single-strand conformation polymorphism analysis and direct DNA sequencing. DNA analyses revealed an A-->T transversion at the second base of codon 526 of the fibrinogen alpha-chain gene in both of these kindreds. Analysis of DNA polymorphisms in the fibrinogen alpha-chain gene locus (TCTT repeat in intron 3, Rsal site in exon 5, and Taql site in the 3' flanking region of the gene) showed the haplotype B5-Rsal(+)-Taql(-) for the Val 526 mutant gene in both kindreds studied here, as well as in two kindreds previously described (J Clin Invest 1994; 93:731). The fibrinogen alpha-chain gene mutation (Val 526) is the genetic defect responsible for hereditary renal amyloidosis in these two kindreds, and the mutant genes in the Val 526 kindreds may have been derived from a single founder.
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PMID:The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. 894 30


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